A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678025



Internal ID9944130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101357970..101362207hg38UCSC Ensembl
chr7:101001251..101005488hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384238
hg194238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1230e199
Supporting Variantsessv5423811, essv5534305, essv6067053, essv6532323, essv5528897, essv5854010, essv6528789, essv6143350, essv6340228, essv5503012, essv6308315, essv5507256, essv5524422, essv5632637, essv6302963, essv5911152, essv6322426, essv6566040, essv5531449, essv5612802, essv6309115, essv6070041, essv6277457, essv5438062, essv6165991, essv5897514, essv6279755, essv5803294, essv5655094, essv6073112, essv5654611, essv5940580, essv5571903, essv6530575, essv6398403, essv5858945, essv5657974, essv6375280, essv6349621
SamplesHG01462, HG01066, HG01518, HG01522, HG01140, HG00337, HG00138, HG01167, HG00173, NA20769, NA07048, NA12282, NA06984, HG01519, HG01440, HG00159, HG00133, HG00188, HG00149, HG00328, NA12342, NA20519, HG00373, NA19453, HG01107, NA19321, HG00375, HG00136, NA19444, NA12347, NA11843, NA20758, NA19780, NA07056, NA19312, HG00345, NA12890, NA07000, HG01437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678025
Frequency
Sample Size1151
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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